MRPS2

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene.

Full Name

MITOCHONDRIAL RIBOSOMAL PROTEIN S2

Function

Required for mitoribosome formation and stability, and mitochondrial translation.

Biological Process

Mitochondrial ribosome assembly Source: UniProtKB
Mitochondrial translation Source: UniProtKB

Cellular Location

Mitochondrion

Involvement in disease

Combined oxidative phosphorylation deficiency 36 (COXPD36):
An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability.